Rare Disease Group

The main objectives of the Tuberous Sclerosis Rare Disease Group are to:

  • Recruit eligible patients for the RaDaR rare disease registry
  • Provide reliable information for patients and relatives regarding the condition, as well as practical information to allow patients to find specialist clinics and make contact with the Tuberous Sclerosis Association (patient support group)
  • Organise patient information days to promote face-to-face contact between professionals and patients/families in collaboration with the UK TSA

There are a number of unanswered questions relating to Tuberous Sclerosis Complex (TSC), which the RDG hopes to be able to address:

  • What is the frequency and severity of renal involvement in patients with TSC, particularly as they grow older?
  • What is the frequency of multiple renal AMLs in individuals without other features of TSC?
  • What is the frequency of renal impairment or renal haemorrhage in patients with renal AMLs, and how does this relate the lesion size, number and distribution?
  • What is the frequency of bleeding or renal impairment in patients with multiple renal AMLS treated with mTOR inhibitors or other interventions?
  • What is the frequency of impaired GFR (CKD stage 2 or higher), and what are the causes?
  • What is the efficacy of treatment of renal AMLs in preventing bleeding and preserving GFR?
  • What are the optional treatment regimes with mTOR inhibitors?

The TSG Rare Disease Group will provide a powerful mechanism to collect data across the population to help answer these questions and to identify a cohort of patients who could be approached for future prospective observational or clinical studies.

The Tuberous Sclerosis Rare Disease Group will initially focus on the following tasks:

  • Agree on the RaDaR dataset for TSC patients
  • Write information for patients/relatives
  • Write information for healthcare professionals
  • Compile useful links to guidelines and resources
  • Compile map of UK specialist clinics and regional multidisciplinary teams

The group will collaborate with the TOSCA consortium, (TuberOus SClerosis registry to increase disease Awareness), an international research database which has already recruited over 2,000 TSC patients from over 30 countries and is the largest database study of the condition ever undertaken. The findings from TOSCA will inform the aims of the RDG’s research projects and vice versa.

The Group will work with the Tuberous Sclerosis Association (TSA), a UK patients and family charity that provides high quality education and direct support to people with TSC. They also provide research grants. Patient representatives from the TSA are members of the RDG. The TSA will put patients and their families in touch with RaDaR and research findings from RaDaR will be shared with the TSA.

Tuberous Sclerosis RDG Annual Report 2019 – 2020

RDG Lead(s)
  • Dr Nicholas Annear, St George’s Hospital, London, RDG Lead
Patient representative(s)
  • Mr Luke Langlands, Joint Chief Executive of the UK Tuberous Sclerosis Association (TSA)
  • Dr Pooja Takhar, Joint Chief Executive of the UK Tuberous Sclerosis Association (TSA)
Other members
  • Dr Alex Crow, Arrowe Park Hospital, Wirral
  • Dr Frances Elmslie, South West Thames Regional Genetics Service, University of London
  • Dr Eric Finlay, Leeds General Infirmary
  • Dr Danny Gale, University College London
  • Dr Larissa Kerecuk, Birmingham Children’s Hospital
  • Dr Chris Kingswood, Royal Sussex County Hospital
  • Dr John Sayer, Institute of Genetic Medicine, Newcastle University

Dr Chris Kingswood has received honoraria for consultancy work from Novartis pharmaceuticals and his institution has received research grants from Novartis

The clinics at St Georges and the Royal Free hospitals have both received a grant towards the salary of a TSC clinic co-ordinator from Novartis

There are no other conflicts of interest